Full data view for gene VLDLR

Information The variants shown are described using the NM_003383.3 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-2418086_*5545131del r.0? p.0? Unknown - pathogenic g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-41594_*163545del r.0? p.0? Paternal (confirmed) - likely pathogenic g.2580596_2817413del g.2580596_2817413del KCNV2 D5: g.2570596_2807413del - KCNV2_000171 heterozygous PubMed: Wissinger 2011 - - Germline yes - - - - DNA STR, arraySNP, TaqMan, arrayCGH, SEQ blood - retinal disease CHRO158_W07-1637 PubMed: Wissinger 2011 - F - - - - - - - 1 LOVD
-?/. - c.-21_-19dup r.(?) p.(=) Unknown - likely benign g.2622169_2622171dup g.2622169_2622171dup VLDLR(NM_003383.4):c.-22_-20dupCGG - VLDLR_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2T>C r.(?) p.(Met1?) Parent #1 - likely pathogenic g.2622191T>C g.2622191T>C - - VLDLR_000068 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797046092 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.23C>A r.(?) p.(Ala8Glu) Unknown - VUS g.2622212C>A g.2622212C>A VLDLR(NM_003383.4):c.23C>A (p.A8E) - VLDLR_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81C>A r.(?) p.(Thr27=) Unknown - likely benign g.2622270C>A g.2622270C>A VLDLR(NM_003383.4):c.81C>A (p.T27=) - VLDLR_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.82+7G>A r.(=) p.(=) Unknown - benign g.2622278G>A g.2622278G>A VLDLR(NM_003383.4):c.82+7G>A - VLDLR_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.86G>A r.(?) p.(Arg29Lys) Unknown - likely benign g.2635456G>A - VLDLR(NM_003383.4):c.86G>A (p.R29K) - VLDLR_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.102A>T r.(?) p.(Glu34Asp) Unknown - VUS g.2635472A>T g.2635472A>T VLDLR(NM_001018056.1):c.102A>T (p.(Glu34Asp)) - VLDLR_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.127G>A r.(?) p.(Gly43Ser) Unknown - VUS g.2635497G>A g.2635497G>A VLDLR(NM_003383.4):c.127G>A (p.G43S) - VLDLR_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.175G>A r.(?) p.(Val59Ile) Unknown - benign g.2635545G>A g.2635545G>A VLDLR(NM_001018056.1):c.175G>A (p.(Val59Ile)), VLDLR(NM_003383.4):c.175G>A (p.V59I) - VLDLR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175G>A r.(?) p.(Val59Ile) Parent #1 - likely benign g.2635545G>A g.2635545G>A - - VLDLR_000004 138 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6149 Germline - 138/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 138 Mohammed Faruq
-?/. - c.175G>A r.(?) p.(Val59Ile) Both (homozygous) - likely benign g.2635545G>A g.2635545G>A - - VLDLR_000004 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6149 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.175G>A r.(?) p.(Val59Ile) Unknown - likely benign g.2635545G>A - VLDLR(NM_001018056.1):c.175G>A (p.(Val59Ile)), VLDLR(NM_003383.4):c.175G>A (p.V59I) - VLDLR_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180C>T r.(?) p.(Asp60=) Unknown - likely benign g.2635550C>T g.2635550C>T VLDLR(NM_003383.4):c.180C>T (p.D60=) - VLDLR_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.181G>A r.(?) p.(Gly61Ser) Unknown - VUS g.2635551G>A g.2635551G>A VLDLR(NM_003383.4):c.181G>A (p.G61S) - VLDLR_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.242A>G r.(?) p.(Asn81Ser) Unknown - likely benign g.2639898A>G g.2639898A>G VLDLR(NM_003383.4):c.242A>G (p.N81S) - VLDLR_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.312C>A r.(?) p.(Ser104Arg) Unknown - VUS g.2639968C>A - VLDLR(NM_003383.5):c.312C>A (p.(Ser104Arg)) - VLDLR_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.315A>G r.(?) p.(Pro105=) Unknown - likely benign g.2639971A>G - VLDLR(NM_003383.4):c.315A>G (p.P105=) - VLDLR_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.376C>T r.[376c>u,326_448del] p.[Gln126*,His109_Gly150delinsArg] Both (homozygous) ACMG pathogenic (recessive) g.2641427C>T g.2641427C>T - - VLDLR_000079 analysis RNA patient fibroblasts PubMed: Holling 2024 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - DD FamPat1 PubMed: Holling 2024 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Egypt - - - - - 2 Tess Holling
+?/. 4 c.376C>T r.[376c>u,326_448del] p.[Gln126*,His109_Gly150delinsArg] Both (homozygous) ACMG pathogenic (recessive) g.2641427C>T g.2641427C>T - - VLDLR_000079 analysis RNA patient fibroblasts PubMed: Holling 2024 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - DD FamPat2 PubMed: Holling 2024 sister F - Egypt - - - - - 1 Tess Holling
?/. - c.464G>C r.(?) p.(Ser155Thr) Unknown - VUS g.2643175G>C g.2643175G>C VLDLR(NM_003383.4):c.464G>C (p.S155T) - VLDLR_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.468C>T r.(?) p.(Pro156=) Unknown - benign g.2643179C>T g.2643179C>T VLDLR(NM_003383.4):c.468C>T (p.P156=) - VLDLR_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.471C>T r.(?) p.(Asp157=) Unknown - likely benign g.2643182C>T g.2643182C>T VLDLR(NM_003383.4):c.471C>T (p.D157=) - VLDLR_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540C>T r.(?) p.(Ser180=) Unknown - likely benign g.2643251C>T g.2643251C>T VLDLR(NM_003383.4):c.540C>T (p.S180=) - VLDLR_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.541G>A r.(?) p.(Asp181Asn) Unknown - VUS g.2643252G>A - VLDLR(NM_003383.5):c.541G>A (p.(Asp181Asn)) - VLDLR_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559G>T r.(?) p.(Asp187Tyr) Unknown - VUS g.2643270G>T g.2643270G>T VLDLR(NM_003383.4):c.559G>T (p.D187Y) - VLDLR_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582C>T r.(?) p.(Gly194=) Unknown - likely benign g.2643293C>T g.2643293C>T VLDLR(NM_003383.4):c.582C>T (p.G194=) - VLDLR_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.639C>T r.(?) p.(Asp213=) Unknown - likely benign g.2643350C>T g.2643350C>T VLDLR(NM_003383.4):c.639C>T (p.D213=) - VLDLR_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.732C>G r.(?) p.(Ile244Met) Unknown - VUS g.2643443C>G g.2643443C>G VLDLR(NM_003383.4):c.732C>G (p.I244M) - VLDLR_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738C>T r.(?) p.(Cys246=) Unknown - likely benign g.2643449C>T g.2643449C>T VLDLR(NM_003383.4):c.738C>T (p.C246=) - VLDLR_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753C>T r.(?) p.(Cys251=) Unknown - likely benign g.2643464C>T g.2643464C>T VLDLR(NM_003383.4):c.753C>T (p.C251=) - VLDLR_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.769C>T r.(?) p.(Arg257*) Both (homozygous) - pathogenic (recessive) g.2643480C>T g.2643480C>T - - VLDLR_000053 - PubMed: Ozcelik 2008 - - Germline yes - - - - DNA SEQ - - ? Family A PubMed: Ozcelik 2008 3-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Turkey - - - - - 5 Johan den Dunnen
?/. - c.792C>T r.(?) p.(Cys264=) Unknown - VUS g.2643503C>T g.2643503C>T VLDLR(NM_003383.4):c.792C>T (p.C264=) - VLDLR_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.827G>C r.(?) p.(Arg276Pro) Unknown - VUS g.2643634G>C g.2643634G>C VLDLR(NM_001018056.1):c.827G>C (p.(Arg276Pro)) - VLDLR_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.836G>A r.(?) p.(Arg279Gln) Unknown - VUS g.2643643G>A g.2643643G>A VLDLR(NM_003383.4):c.836G>A (p.R279Q) - VLDLR_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.902G>A r.(?) p.(Arg301Gln) Unknown - VUS g.2643709G>A g.2643709G>A VLDLR(NM_003383.4):c.902G>A (p.R301Q) - VLDLR_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.910G>T r.(?) p.(Val304Phe) Unknown - likely benign g.2643717G>T - VLDLR(NM_003383.4):c.910G>T (p.V304F) - VLDLR_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943+1G>A r.spl? p.? Unknown - VUS g.2643751G>A g.2643751G>A VLDLR(NM_003383.4):c.943+1G>A - VLDLR_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.944-5T>C r.spl? p.? Unknown - benign g.2643832T>C g.2643832T>C VLDLR(NM_003383.4):c.944-5T>C - VLDLR_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954C>T r.(?) p.(Cys318=) Unknown - likely benign g.2643847C>T g.2643847C>T VLDLR(NM_003383.4):c.954C>T (p.C318=) - VLDLR_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.982A>G r.(?) p.(Ser328Gly) Unknown - VUS g.2643875A>G g.2643875A>G VLDLR(NM_003383.4):c.982A>G (p.S328G) - VLDLR_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1054C>G r.(?) p.(Leu352Val) Unknown - VUS g.2643947C>G g.2643947C>G VLDLR(NM_003383.4):c.1054C>G (p.L352V) - VLDLR_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1066C>T r.(?) p.(His356Tyr) Unknown - likely benign g.2643959C>T g.2643959C>T VLDLR(NM_003383.4):c.1066C>T (p.H356Y) - VLDLR_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1066+1G>A r.spl? p.? Unknown - VUS g.2643960G>A g.2643960G>A VLDLR(NM_003383.4):c.1066+1G>A - VLDLR_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074C>T r.(?) p.(Asn358=) Unknown - likely benign g.2644741C>T g.2644741C>T VLDLR(NM_003383.4):c.1074C>T (p.N358=) - VLDLR_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1187-3C>T r.spl? p.? Unknown - benign g.2644954C>T g.2644954C>T VLDLR(NM_003383.4):c.1187-3C>T - VLDLR_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1199G>A r.(?) p.(Cys400Tyr) Unknown - likely pathogenic g.2644969G>A - VLDLR(NM_003383.5):c.1199G>A (p.C400Y) - VLDLR_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1211G>T r.(?) p.(Gly404Val) Unknown - VUS g.2644981G>T - VLDLR(NM_003383.4):c.1211G>T (p.G404V) - VLDLR_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1245C>T r.(?) p.(Gly415=) Unknown - likely benign g.2645015C>T - VLDLR(NM_003383.4):c.1245C>T (p.G415=) - VLDLR_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1256G>A r.(?) p.(Cys419Tyr) Both (homozygous) - likely pathogenic g.2645026G>A g.2645026G>A - - VLDLR_000001 - - - - Germline yes - - - - DNA SEQ - - CAMRQ1 - - - F no Italy - - - - - 1 Enza Maria Valente
-/. - c.1312+27G>A r.(=) p.(=) Unknown - benign g.2645109G>A g.2645109G>A VLDLR(NM_003383.4):c.1312+27G>A - VLDLR_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1313-17A>T r.(=) p.(=) Unknown - benign g.2645557A>T g.2645557A>T VLDLR(NM_003383.4):c.1313-17A>T - VLDLR_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1337C>G r.(?) p.(Thr446Ser) Unknown - VUS g.2645598C>G - VLDLR(NM_003383.4):c.1337C>G (p.T446S) - VLDLR_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1342C>T r.(?) p.(Arg448Ter) Both (homozygous) ACMG pathogenic (recessive) g.2645603C>T g.2645603C>T - - VLDLR_000074 - PubMed: Hu 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ID M8700052 PubMed: Hu 2019 family, 3 affected individuals, third cousin parents - yes Iran Persia - - - - 3 Johan den Dunnen
?/. - c.1452C>A r.(?) p.(Phe484Leu) Unknown - VUS g.2645713C>A - VLDLR(NM_003383.5):c.1452C>A (p.(Phe484Leu)) - VLDLR_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1457C>G r.(?) p.(Ala486Gly) Unknown - VUS g.2645718C>G g.2645718C>G VLDLR(NM_003383.4):c.1457C>G (p.A486G) - VLDLR_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1457C>G r.(?) p.(Ala486Gly) Unknown - likely pathogenic g.2645718C>G g.2645718C>G - - VLDLR_000029 - PubMed: Vadgama 2019, Journal: Vadgama 2019 - - Germline - - - - - DNA SEQ-NG Buccal WES SCZD IP16 PubMed: Vadgama 2019, Journal: Vadgama 2019 - M - - - - - - - 1 Nirmal Vadgama
-/. - c.1458C>T r.(?) p.(Ala486=) Unknown - benign g.2645719C>T g.2645719C>T VLDLR(NM_003383.4):c.1458C>T (p.A486=) - VLDLR_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1459G>T r.(?) p.(Asp487Tyr) Both (homozygous) - pathogenic (recessive) g.2645720G>T g.2645720G>T - - VLDLR_000083 - PubMed: Elmas 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat18 PubMed: Elmas 2019 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+/. - c.1459G>T r.(?) p.(Asp487Tyr) Both (homozygous) - pathogenic (recessive) g.2645720G>T g.2645720G>T - - VLDLR_000083 - PubMed: Elmas 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? FamPat19 PubMed: Elmas 2019 brother M yes Turkey - - - - - 1 Johan den Dunnen
-/. - c.1484+28T>G r.(=) p.(=) Unknown - benign g.2645773T>G g.2645773T>G VLDLR(NM_003383.4):c.1484+28T>G - VLDLR_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1532A>G r.(?) p.(Asn511Ser) Unknown - VUS g.2646381A>G g.2646381A>G VLDLR(NM_003383.4):c.1532A>G (p.N511S) - VLDLR_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1552A>G r.(?) p.(Ile518Val) Unknown - VUS g.2646401A>G g.2646401A>G VLDLR(NM_003383.4):c.1552A>G (p.I518V) - VLDLR_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1596G>A r.(?) p.(Ala532=) Unknown - likely benign g.2646445G>A g.2646445G>A VLDLR(NM_003383.4):c.1596G>A (p.A532=) - VLDLR_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1612T>A r.(?) p.(Ser538Thr) Unknown - likely benign g.2646461T>A g.2646461T>A VLDLR(NM_001018056.1):c.1612T>A (p.(Ser538Thr)) - VLDLR_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1643A>G r.(?) p.(Lys548Arg) Unknown - VUS g.2646492A>G g.2646492A>G VLDLR(NM_003383.4):c.1643A>G (p.K548R), VLDLR(NM_003383.5):c.1643A>G (p.(Lys548Arg)) - VLDLR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1643A>G r.(?) p.(Lys548Arg) Unknown - VUS g.2646492A>G - VLDLR(NM_003383.4):c.1643A>G (p.K548R), VLDLR(NM_003383.5):c.1643A>G (p.(Lys548Arg)) - VLDLR_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1667G>A r.(?) p.(Arg556Gln) Unknown - VUS g.2646516G>A g.2646516G>A VLDLR(NM_003383.4):c.1667G>A (p.R556Q), VLDLR(NM_003383.5):c.1667G>A (p.(Arg556Gln)) - VLDLR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1667G>A r.(?) p.(Arg556Gln) Unknown - likely benign g.2646516G>A g.2646516G>A VLDLR(NM_003383.4):c.1667G>A (p.R556Q), VLDLR(NM_003383.5):c.1667G>A (p.(Arg556Gln)) - VLDLR_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1791G>A r.(?) p.(Ala597=) Unknown - likely benign g.2647561G>A g.2647561G>A VLDLR(NM_003383.4):c.1791G>A (p.A597=) - VLDLR_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1809C>T r.(?) p.(Asn603=) Unknown - likely benign g.2647579C>T g.2647579C>T VLDLR(NM_003383.4):c.1809C>T (p.N603=) - VLDLR_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1901G>A r.(?) p.(Arg634His) Unknown - VUS g.2648286G>A g.2648286G>A VLDLR(NM_003383.4):c.1901G>A (p.R634H) - VLDLR_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1919C>T r.(?) p.(Ser640Phe) Both (homozygous) - VUS g.2648304C>T - - - VLDLR_000075 - - - - Germline - - - - - DNA SEQ-NG - WES ID 157P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.1962+2T>A r.spl? p.? Unknown - pathogenic g.2648349T>A g.2648349T>A VLDLR(NM_003383.4):c.1962+2T>A - VLDLR_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1962+10G>C r.(=) p.(=) Unknown - likely benign g.2648357G>C g.2648357G>C VLDLR(NM_003383.4):c.1962+10G>C - VLDLR_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1990A>T r.(?) p.(Asn664Tyr) Unknown - VUS g.2648696A>T - - - VLDLR_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2041C>T r.(?) p.(Leu681=) Unknown - likely benign g.2648747C>T g.2648747C>T VLDLR(NM_003383.4):c.2041C>T (p.L681=) - VLDLR_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2067A>G r.(?) p.(Gln689=) Unknown - benign g.2648773A>G g.2648773A>G VLDLR(NM_003383.4):c.2067A>G (p.Q689=) - VLDLR_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2104+6G>A r.(=) p.(=) Unknown - likely benign g.2648816G>A - VLDLR(NM_003383.5):c.2104+6G>A - VLDLR_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2130G>A r.(?) p.(Met710Ile) Unknown - likely benign g.2650395G>A g.2650395G>A VLDLR(NM_003383.4):c.2130G>A (p.M710I) - VLDLR_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2131G>A r.(?) p.(Glu711Lys) Unknown - likely benign g.2650396G>A g.2650396G>A VLDLR(NM_001018056.1):c.2131G>A (p.(Glu711Lys)) - VLDLR_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2252-30T>C r.(=) p.(=) Unknown - benign g.2651385T>C g.2651385T>C VLDLR(NM_003383.4):c.2252-30T>C - VLDLR_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2277T>C r.(?) p.(Ser759=) Unknown - likely benign g.2651440T>C g.2651440T>C VLDLR(NM_003383.4):c.2277T>C (p.S759=) - VLDLR_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2291C>T r.(?) p.(Thr764Met) Unknown - benign g.2651454C>T g.2651454C>T VLDLR(NM_003383.4):c.2291C>T (p.T764M) - VLDLR_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2336G>T r.(?) p.(Gly779Val) Unknown - VUS g.2651874G>T - VLDLR(NM_003383.5):c.2336G>T (p.(Gly779Val)) - VLDLR_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2339del r.(?) p.(Ile780Thrfs*3) Both (homozygous) - pathogenic (recessive) g.2651877del g.2651877del 2339delT - VLDLR_000054 - PubMed: Ozcelik 2008 - - Germline yes - - - - DNA SEQ - - ? Family D PubMed: Ozcelik 2008 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Turkey - - - - - 3 Johan den Dunnen
?/. - c.2395G>A r.(?) p.Ala799Thr Unknown ACMG VUS g.2651933G>A g.2651933G>A - - VLDLR_000052 no second variant detected in VLDLR - - rs183359461 Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
-/. - c.2416+8G>T r.(=) p.(=) Unknown - benign g.2651962G>T g.2651962G>T VLDLR(NM_003383.4):c.2416+8G>T - VLDLR_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2416+13C>T r.(=) p.(=) Unknown - likely benign g.2651967C>T g.2651967C>T VLDLR(NM_003383.4):c.2416+13C>T - VLDLR_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2546T>C r.(?) p.(Ile849Thr) Unknown - VUS g.2652909T>C g.2652909T>C VLDLR(NM_003383.4):c.2546T>C (p.I849T) - VLDLR_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*10C>T r.(=) p.(=) Unknown - likely benign g.2653878C>T g.2653878C>T VLDLR(NM_003383.4):c.*10C>T - VLDLR_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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